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Article

Sequence-based analysis of properdin deficiency: identification of point mutations in two phenotypic forms of an X-linked immunodeficiency.

Genomics - 1 Sept 1995

Westberg J, Fredrikson G N, Truedsson L, Sjöholm A G, Uhlén M

Abstract excerpt

Properdin deficiency is an inherited X-linked disorder causing increased susceptibility to meningococcal disease. Here, underlying genetic defects in the properdin gene were identified for the first time. Samples from individuals with type I deficiency, defined as complete absence of properdin in...

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Identifiers

PMID: 8530058
DOI: 10.1006/geno.1995.1208

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-8530058-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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Sequence-based analysis of properdin deficiency: identification of point mutations in two phenotypic forms of an X-linked immunodeficiency.PMID 8530058Read ↗

A novel mutation W388X underlying properdin deficiency in a Finnish family.Semantic proximity Read ↗

Molecular characterization of properdin deficiency type III: dysfunction produced by a single point mutation in exon 9 of the structural gene causing a tyrosine to aspartic acid interchangeSemantic proximity Read ↗

[Properdin mutations a risk factor for meningitis].Semantic proximity Read ↗

Properdin deficiency: molecular basis and disease association.Semantic proximity Read ↗

Carrier detection in families with properdin deficiency by microsatellite haplotyping.Semantic proximity Read ↗

Properdin deficiency in a large Swiss family: identification of a stop codon in the properdin gene, and association of meningococcal disease with lack of the IgG2 allotype marker G2m(n)Semantic proximity Read ↗

Human properdin deficiency has a heterogeneous genetic background.Semantic proximity Read ↗

Properdin deficiency associated with recurrent otitis media and pneumonia, and identification of male carrier with Klinefelter syndrome.Semantic proximity Read ↗

Properdin deficiency and meningococcal disease—identifying those most at riskSemantic proximity Read ↗

Association between combined properdin and mannose-binding lectin deficiency and infection with Neisseria meningitidis.Semantic proximity Read ↗

Characterization of mutant forms of recombinant human properdin lacking single thrombospondin type I repeats. Identification of modules important for function.Semantic proximity Read ↗

Recurrent meningococcal septicaemia and properdin deficiencySemantic proximity Read ↗

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